Hs02599504_cn

• Gene Symbol: DENND5B
• Assay Reference Genome Location: Chr.12:31402552 on build GRCh38
• Cytoband: 12p11.21

Target Gene Details

• Entrez Gene ID: 160518
• Gene Name: DENN domain containing 5B
• Gene Aliases: -
• Location: Chr.12:31382223-31591018 on Build GRCh38
• Assay Gene Location: Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DENND5B	NM_001308339.1	17	3151	NP_001295268.1
	NM_144973.3	15	3081	NP_659410.3
	XM_005253326.2	17	3194	XP_005253383.1
	XM_005253327.3	16	3187	XP_005253384.1
	XM_005253330.3	17	2663	XP_005253387.1
	XM_006719040.3	16	3083	XP_006719103.1
	XM_011520590.2	14	2430	XP_011518892.1
	XM_017018896.1	17	3194	XP_016874385.1
	XM_017018897.1	17	3557	XP_016874386.1
	XM_017018898.1	16	2657	XP_016874387.1
	XM_017018899.1	16	2442	XP_016874388.1
	AB209341.1	11	1711	BAD92578.1
	AK095598.1	12	1892	BAC04583.1
	AK123642.1
	AK125323.1	17	3151	BAC86129.1
	BX537924.1	8	854	CAD97905.1
	CR749639.1	3	323	CAH18433.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2751046	Chr.12:31021299 - 31531799 on Build GRCh38	Gain	DENND5B LOC101929027 DDX11-AS1 OVOS2 FAM60A FLJ13224 DDX11
nsv832364	Chr.12:31315056 - 31495210 on Build GRCh38	Loss	DENND5B LOC101929027 FAM60A FLJ13224

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

positive regulation of GTPase activity
detection of mechanical stimulus
calcium ion transmembrane transport

Function(s)

calcium channel activity
Rab guanyl-nucleotide exchange factor activity